Raras
Buscar doenças, sintomas, genes...
Alteração da glicólise
ORPHA:308459DOENÇA RARA

Fator de crescimento semelhante à insulina tipo 1, somatomedina C ou IGF-1 é uma proteína produzida no fígado em resposta ao hormônio de crescimento (GH) com papel importante no crescimento, desenvolvimento da musculatura, diminui os níveis de glicose no sangue, reduz os níveis de gordura corporal, altera a oxidação lipídica e aumenta a síntese de proteínas.

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Introdução

O que você precisa saber de cara

📋

Doença rara que afeta o metabolismo da glicose, causando atraso de crescimento, ptose, nefropatia e coma hipoglicêmico. Pode apresentar atividade reduzida da 6-fosfofrutoquinase muscular e nível reduzido de peptídeo C.

Publicações científicas
41.728 artigos
Último publicado: 2026
Medicamentos
1 registrados
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

💪
Músculos
32 sintomas
🧠
Neurológico
26 sintomas
📏
Crescimento
25 sintomas
🫘
Rins
25 sintomas
🫃
Digestivo
16 sintomas
🦴
Ossos e articulações
11 sintomas

+ 144 sintomas em outras categorias

Características mais comuns

Atraso de crescimento
Orelhas espessadas
Ptose
Epicanto
Anormalidade regional da pele
Nefropatia
323sintomas
Sem dados (323)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 323 características clínicas mais associadas, ordenadas por frequência.

Atraso de crescimentoGrowth delay
Orelhas espessadasThickened ears
PtosePtosis
EpicantoEpicanthus
Anormalidade regional da peleRegional abnormality of skin

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico41.728PubMed
Últimos 10 anos200publicações
Pico2026198 papers
Linha do tempo
2025Hoje · 2026🧪 2010Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

28 genes identificados com associação a esta condição.

GCKMitogen-activated protein kinase kinase kinase kinase 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidi

LOCALIZAÇÃO

CytoplasmBasolateral cell membraneGolgi apparatus membrane

VIAS BIOLÓGICAS (5)
GlycolysisRegulation of gene expression in beta cellsRegulation of Glucokinase by Glucokinase Regulatory ProteinDefective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
EXPRESSÃO TECIDUAL(Tecido-específico)
Pituitária
34.5 TPM
Cérebro - Hemisfério cerebelar
7.2 TPM
Cerebelo
7.1 TPM
Hipotálamo
6.5 TPM
Coração - Átrio
3.1 TPM
OUTRAS DOENÇAS (7)
type 2 diabetes mellitusmaturity-onset diabetes of the young type 2permanent neonatal diabetes mellitus 1monogenic diabetes
HGNC:4195UniProt:Q12851
LDHAL-lactate dehydrogenase A chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (2)
Pyruvate metabolismRegulation of pyruvate metabolism
MECANISMO DE DOENÇA

Glycogen storage disease 11

A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
1357.2 TPM
Fibroblastos
1101.5 TPM
Artéria tibial
510.3 TPM
Aorta
482.4 TPM
Artéria coronária
397.3 TPM
OUTRAS DOENÇAS (1)
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
HGNC:6535UniProt:P00338
HNF4AHepatocyte nuclear factor 4-alphaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Nuclear Receptor transcription pathwayNephron development
MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 1

A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
55.4 TPM
Cólon transverso
33.0 TPM
Intestino delgado
30.7 TPM
Rim - Córtex
11.4 TPM
Pâncreas
5.6 TPM
OUTRAS DOENÇAS (7)
maturity-onset diabetes of the young type 1Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngmonogenic diabetesatypical Fanconi syndrome-neonatal hyperinsulinism syndrome
HGNC:5024UniProt:P41235
ABCC8ATP-binding cassette sub-family C member 8Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for activation and regulation

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
Regulation of insulin secretionATP sensitive Potassium channels
MECANISMO DE DOENÇA

Leucine-induced hypoglycemia

Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.

OUTRAS DOENÇAS (12)
hyperinsulinemic hypoglycemia, familial, 1diabetes mellitus, transient neonatal, 2diabetes mellitus, permanent neonatal 3hypoglycemia, leucine-induced
HGNC:59UniProt:Q09428
HNF1AHepatocyte nuclear factor 1-alphaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity) (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of gene expression in beta cells
MECANISMO DE DOENÇA

Hepatic adenomas familial

Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
8.7 TPM
Intestino delgado
6.3 TPM
Rim - Córtex
5.3 TPM
Cólon transverso
4.3 TPM
Estômago
4.1 TPM
OUTRAS DOENÇAS (11)
maturity-onset diabetes of the young type 3nonpapillary renal cell carcinomahepatic adenomas, familialtype 1 diabetes mellitus 20
HGNC:11621UniProt:P20823
APPL1DCC-interacting protein 13-alphaCandidate gene tested inRestrito
FUNÇÃO

Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:10490823, PubMed:15016378, PubMed:19661063, PubMed:26073777, PubMed:26583432). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of i

LOCALIZAÇÃO

Early endosome membraneNucleusCytoplasmEndosomeCell projection, ruffleCytoplasmic vesicle, phagosome

VIAS BIOLÓGICAS (1)
Caspase activation via Dependence Receptors in the absence of ligand
MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 14

A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

OUTRAS DOENÇAS (2)
maturity-onset diabetes of the youngmaturity-onset diabetes of the young type 14
HGNC:24035UniProt:Q9UKG1
PFKMATP-dependent 6-phosphofructokinase, muscle typeDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Glycolysis
MECANISMO DE DOENÇA

Glycogen storage disease 7

A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
501.6 TPM
Coração - Ventrículo esquerdo
126.7 TPM
Cérebro - Hemisfério cerebelar
110.7 TPM
Cerebelo
102.2 TPM
Coração - Átrio
83.2 TPM
OUTRAS DOENÇAS (1)
glycogen storage disease VII
HGNC:8877UniProt:P08237
STAT3Signal transducer and activator of transcription 3Candidate gene tested inAltamente restrito
FUNÇÃO

Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:15653507, PubMed:16285960, PubMed:17344214, PubMed:18242580, PubMed:18782771, PubMed:22306293, PubMed:23084476, PubMed:28262505, PubMed:32929201, PubMed:38404237). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:15653507, Pu

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (10)
Interleukin-20 family signalingDownstream signal transductionInterleukin-15 signalingSignaling by SCF-KITInterleukin-9 signaling
MECANISMO DE DOENÇA

Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections

A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
173.0 TPM
Artéria tibial
145.7 TPM
Aorta
144.8 TPM
Adipose Visceral Omentum
140.2 TPM
Fallopian Tube
136.9 TPM
OUTRAS DOENÇAS (7)
hyper-IgE recurrent infection syndrome 1, autosomal dominantSTAT3-related early-onset multisystem autoimmune diseasebreast implant-associated anaplastic large cell lymphomaacute promyelocytic leukemia
HGNC:11364UniProt:P40763
LDHBL-lactate dehydrogenase B chainDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)

LOCALIZAÇÃO

CytoplasmMitochondrion inner membrane

VIAS BIOLÓGICAS (1)
Pyruvate metabolism
MECANISMO DE DOENÇA

Lactate dehydrogenase B deficiency

A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
1127.9 TPM
Coração - Ventrículo esquerdo
873.8 TPM
Rim - Medula
786.4 TPM
Fibroblastos
738.5 TPM
Rim - Córtex
622.3 TPM
OUTRAS DOENÇAS (1)
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
HGNC:6541UniProt:P07195
PDX1Pancreas/duodenum homeobox protein 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentiall

LOCALIZAÇÃO

NucleusCytoplasm, cytosol

VIAS BIOLÓGICAS (5)
Regulation of gene expression in beta cellsRegulation of gene expression in early pancreatic precursor cellsDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsDevelopmental Lineage of Pancreatic Ductal CellsDevelopmental Lineage of Pancreatic Acinar Cells
MECANISMO DE DOENÇA

Pancreatic agenesis 1

A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pâncreas
9.2 TPM
Linfócitos
0.5 TPM
Testículo
0.2 TPM
Fígado
0.2 TPM
Estômago
0.1 TPM
OUTRAS DOENÇAS (6)
maturity-onset diabetes of the young type 4pancreatic agenesis 1pancreatic agenesismaturity-onset diabetes of the young
HGNC:6107UniProt:P52945
ALDOAFructose-bisphosphate aldolase ADisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis (PubMed:14766013). In addition, may also function as scaffolding protein (By similarity)

LOCALIZAÇÃO

Cytoplasm, myofibril, sarcomere, I bandCytoplasm, myofibril, sarcomere, M line

VIAS BIOLÓGICAS (2)
GlycolysisGluconeogenesis
MECANISMO DE DOENÇA

Glycogen storage disease 12

A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.

OUTRAS DOENÇAS (1)
glycogen storage disease due to aldolase A deficiency
HGNC:414UniProt:P04075
KCNJ11ATP-sensitive inward rectifier potassium channel 11Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:34815345). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (6)
Ion homeostasisABC-family proteins mediated transportDefective ABCC9 causes CMD10, ATFB12 and Cantu syndromeDefective ABCC8 can cause hypo- and hyper-glycemiasRegulation of insulin secretion
MECANISMO DE DOENÇA

Hyperinsulinemic hypoglycemia, familial, 2

A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
87.1 TPM
Cerebelo
37.4 TPM
Cérebro - Hemisfério cerebelar
36.8 TPM
Córtex cerebral
14.0 TPM
Brain Frontal Cortex BA9
13.9 TPM
OUTRAS DOENÇAS (12)
maturity-onset diabetes of the young type 13diabetes mellitus, permanent neonatal 2hyperinsulinemic hypoglycemia, familial, 2diabetes mellitus, transient neonatal, 3
HGNC:6257UniProt:Q14654
HNF1BHepatocyte nuclear factor 1-betaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (6)
Nephron developmentRegulation of gene expression in early pancreatic precursor cellsRegulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsDevelopmental Lineage of Pancreatic Ductal Cells
MECANISMO DE DOENÇA

Renal cysts and diabetes syndrome

An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
90.4 TPM
Rim - Córtex
53.5 TPM
Linfócitos
43.7 TPM
Pâncreas
23.0 TPM
Cólon transverso
14.9 TPM
OUTRAS DOENÇAS (11)
type 2 diabetes mellitusrenal cysts and diabetes syndromechromosome 17q12 deletion syndromerenal dysplasia, unilateral
HGNC:11630UniProt:P35680
PKLRPyruvate kinase PKLRDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis

LOCALIZAÇÃO

VIAS BIOLÓGICAS (3)
Pyruvate metabolismGlycolysisChREBP activates metabolic gene expression
MECANISMO DE DOENÇA

Pyruvate kinase hyperactivity

Autosomal dominant phenotype characterized by increase of red blood cell ATP.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
34.4 TPM
Rim - Córtex
8.2 TPM
Intestino delgado
3.3 TPM
Cérebro - Hemisfério cerebelar
2.7 TPM
Cerebelo
2.2 TPM
OUTRAS DOENÇAS (2)
pyruvate kinase hyperactivitypyruvate kinase deficiency of red cells
HGNC:9020UniProt:P30613
PGAM2Phosphoglycerate mutase 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate, but with a reduced activity

LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
GlycolysisGluconeogenesis
MECANISMO DE DOENÇA

Glycogen storage disease 10

A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.

OUTRAS DOENÇAS (1)
glycogen storage disease due to phosphoglycerate mutase deficiency
HGNC:8889UniProt:P15259
TPI1Triosephosphate isomeraseDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (2)
GlycolysisGluconeogenesis
MECANISMO DE DOENÇA

Triosephosphate isomerase deficiency

An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
1176.5 TPM
Fibroblastos
855.2 TPM
Esôfago - Mucosa
517.8 TPM
Brain Frontal Cortex BA9
466.6 TPM
Cerebelo
441.8 TPM
OUTRAS DOENÇAS (1)
triosephosphate isomerase deficiency
HGNC:12009UniProt:P60174
NARS2Asparaginyl-tRNA synthetaseCandidate gene tested inTolerante
FUNÇÃO

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis (PubMed:25385316). The reaction occurs in a two steps: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (Probable)

LOCALIZAÇÃO

Mitochondrion matrixMitochondrion

VIAS BIOLÓGICAS (1)
Mitochondrial tRNA aminoacylation
MECANISMO DE DOENÇA

Combined oxidative phosphorylation deficiency 24

An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
24.4 TPM
Ovário
17.6 TPM
Fibroblastos
16.6 TPM
Cervix Endocervix
16.3 TPM
Cervix Ectocervix
15.3 TPM
OUTRAS DOENÇAS (4)
combined oxidative phosphorylation defect type 24hearing loss, autosomal recessive 94DEND syndromehearing loss, autosomal recessive
HGNC:26274UniProt:Q96I59
INSInsulinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Insulin receptor recyclingSignaling by Insulin receptor
MECANISMO DE DOENÇA

Hyperproinsulinemia

An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pâncreas
2325.3 TPM
Glândula adrenal
0.5 TPM
Cervix Ectocervix
0.5 TPM
Substância negra
0.4 TPM
Baço
0.3 TPM
OUTRAS DOENÇAS (6)
maturity-onset diabetes of the young type 10diabetes mellitus, permanent neonatal 4hyperproinsulinemiatype 1 diabetes mellitus 2
HGNC:6081UniProt:P01308
KLF11Krueppel-like factor 11Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transcription factor (PubMed:10207080, PubMed:9748269). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:10207080, PubMed:16131492, PubMed:9748269). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity)

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 7

A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
43.6 TPM
Tecido adiposo
42.3 TPM
Adipose Visceral Omentum
38.4 TPM
Skin Not Sun Exposed Suprapubic
35.0 TPM
Mama
34.6 TPM
INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (2)
maturity-onset diabetes of the young type 7maturity-onset diabetes of the young
HGNC:11811UniProt:O14901
HK1Hexokinase-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively) (PubMed:1637300, PubMed:25316723, PubMed:27374331). Does not phosphorylate N-acetyl-D-glucosamine (PubMed:27374331). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to

LOCALIZAÇÃO

Mitochondrion outer membraneCytoplasm, cytosol

VIAS BIOLÓGICAS (2)
GlycolysisSynthesis of GDP-mannose
MECANISMO DE DOENÇA

Anemia, congenital, non-spherocytic hemolytic, 5

An autosomal recessive disorder characterized by hemolytic anemia as the predominant clinical feature, and decreased red cell hexokinase activity.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
153.8 TPM
Cerebelo
139.0 TPM
Esôfago - Mucosa
123.5 TPM
Skin Sun Exposed Lower leg
114.2 TPM
Aorta
113.3 TPM
OUTRAS DOENÇAS (4)
neurodevelopmental disorder with visual defects and brain anomaliesretinitis pigmentosa 79non-spherocytic hemolytic anemia due to hexokinase deficiencyCharcot-Marie-Tooth disease type 4G
HGNC:4922UniProt:P19367
NEUROD1Neurogenic differentiation factor 1Disease-causing germline mutation(s) inModerado
FUNÇÃO

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory n

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (2)
Regulation of gene expression in beta cellsRegulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 6

A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cérebro - Hemisfério cerebelar
306.4 TPM
Cerebelo
215.4 TPM
Hipocampo
4.2 TPM
Brain Frontal Cortex BA9
3.6 TPM
Córtex cerebral
3.4 TPM
OUTRAS DOENÇAS (3)
maturity-onset diabetes of the young type 6maturity-onset diabetes of the youngtype 2 diabetes mellitus
HGNC:7762UniProt:Q13562
CELBile salt-activated lipaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055). Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity). Has an essential role in the complete digestion of dietar

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Developmental Lineage of Pancreatic Acinar Cells
MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 8 with exocrine dysfunction

An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.

OUTRAS DOENÇAS (2)
maturity-onset diabetes of the young type 8maturity-onset diabetes of the young
HGNC:1848UniProt:P19835
BLKTyrosine-protein kinase BlkDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunog

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
RUNX1 regulates transcription of genes involved in BCR signaling
MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 11

A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

OUTRAS DOENÇAS (3)
maturity-onset diabetes of the young type 11systemic lupus erythematosusmaturity-onset diabetes of the young
HGNC:1057UniProt:P51451
PGK1Phosphoglycerate kinase 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). Both L- and D- forms of purine and pyrimidine nucleotides can be used as substrates, but the activity is much lower on pyrimidines (PubMed:18463139). In addition to its role as a glycolytic enzyme, it seems that PGK1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). Acts

LOCALIZAÇÃO

Cytoplasm, cytosolMitochondrion matrix

VIAS BIOLÓGICAS (3)
GlycolysisGluconeogenesisManipulation of host energy metabolism
MECANISMO DE DOENÇA

Phosphoglycerate kinase 1 deficiency

A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations, and some affected individuals develop parkinsonian symptoms.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
714.5 TPM
Fibroblastos
373.9 TPM
Sangue
235.7 TPM
Esôfago - Mucosa
168.6 TPM
Esôfago - Muscular
150.6 TPM
OUTRAS DOENÇAS (1)
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
HGNC:8896UniProt:P00558
ENO3Beta-enolaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Appears to have a function in striated muscle development and regeneration

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (2)
GluconeogenesisGlycolysis
MECANISMO DE DOENÇA

Glycogen storage disease 13

A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
1974.4 TPM
Coração - Ventrículo esquerdo
171.2 TPM
Coração - Átrio
101.8 TPM
Fígado
35.9 TPM
Linfócitos
16.3 TPM
OUTRAS DOENÇAS (1)
glycogen storage disease due to muscle beta-enolase deficiency
HGNC:3354UniProt:P13929
LDHDD-lactate dehydrogenase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. It includes D-lactate which is generated in small amounts either endogenously through the methylglyoxal metabolism pathway or exogenously via intestinal bacterial activity and dietary intake. The dehydrogenase acts specifically on D-lactate, not on its stereoisomer L-lactate, and

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Mitochondrial protein import
MECANISMO DE DOENÇA

D-lactic aciduria with gout

An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
91.7 TPM
Coração - Ventrículo esquerdo
58.5 TPM
Músculo esquelético
47.1 TPM
Ovário
39.4 TPM
Rim - Córtex
31.4 TPM
OUTRAS DOENÇAS (1)
lactic aciduria due to D-lactic acid
HGNC:HGNC:19708UniProt:Q86WU2
GPIGlucose-6-phosphate isomeraseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Isomerase that catalyzes the conversion of alpha-D-glucose-6-phosphate to beta-D-fructose-6-phosphate, the second step in glycolysis, and the reverse reaction in gluconeogenesis, within the cytoplasm (PubMed:28803808). Also shows C2-epimerase activity, interconverting D-glucose-6-phosphate (G6P) and D-mannose-6-phosphate (M6P) (By similarity). Also displays anomerase activity, interconverting alpha and beta-anomeric forms of G6P, D-fructose-6-phosphate and M6P (By similarity). In addition to its

LOCALIZAÇÃO

CytoplasmSecreted

VIAS BIOLÓGICAS (3)
GlycolysisGluconeogenesisTP53 Regulates Metabolic Genes
MECANISMO DE DOENÇA

Anemia, congenital, non-spherocytic hemolytic, 4

An autosomal recessive form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
398.0 TPM
Cérebro - Hemisfério cerebelar
310.4 TPM
Cerebelo
301.6 TPM
Brain Frontal Cortex BA9
224.2 TPM
Glândula adrenal
217.7 TPM
OUTRAS DOENÇAS (1)
hemolytic anemia due to glucophosphate isomerase deficiency
HGNC:4458UniProt:P06744
PAX4Paired box protein Pax-4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
MECANISMO DE DOENÇA

Type 2 diabetes mellitus

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
1.3 TPM
Intestino delgado
0.3 TPM
Cólon transverso
0.2 TPM
Pâncreas
0.0 TPM
Linfócitos
0.0 TPM
OUTRAS DOENÇAS (4)
maturity-onset diabetes of the young type 9type 2 diabetes mellitusmaturity-onset diabetes of the youngdiabetes mellitus, ketosis-prone
HGNC:8618UniProt:O43316

Medicamentos e terapias

MITAPIVATPhase 3

Mecanismo: Pyruvate kinase isozymes R/L activator

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,204 variantes patogênicas registradas no ClinVar.

🧬 GCK: NM_000162.5(GCK):c.45+1G>A ()
🧬 GCK: NM_000162.5(GCK):c.271G>T (p.Val91Leu) ()
🧬 GCK: NM_000162.5(GCK):c.329T>A (p.Ile110Asn) ()
🧬 GCK: NM_000162.5(GCK):c.512T>G (p.Phe171Cys) ()
🧬 GCK: NM_000162.5(GCK):c.549del (p.Leu184fs) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

77 vias biológicas associadas aos genes desta condição.

Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) Defective HK1 causes hexokinase deficiency (HK deficiency) FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Pyruvate metabolism Regulation of pyruvate metabolism Regulation of gene expression in beta cells Nuclear Receptor transcription pathway Nephron development ATP sensitive Potassium channels Regulation of insulin secretion Defective ABCC8 can cause hypo- and hyper-glycemias Caspase activation via Dependence Receptors in the absence of ligand Glycolysis Interleukin-6 signaling BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members Interleukin-7 signaling Signaling by SCF-KIT Signaling by cytosolic FGFR1 fusion mutants Downstream signal transduction Signalling to STAT3 Signaling by ALK Senescence-Associated Secretory Phenotype (SASP) Signaling by Leptin POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Association of TriC/CCT with target proteins during biosynthesis Transcriptional regulation of pluripotent stem cells Interleukin-10 signaling Interleukin-4 and Interleukin-13 signaling PTK6 Activates STAT3 Interleukin-20 family signaling MET activates STAT3 Interleukin-15 signaling Interleukin-35 Signalling Interleukin-9 signaling Interleukin-37 signaling Interleukin-23 signaling Interleukin-27 signaling Interleukin-21 signaling Transcriptional regulation of granulopoiesis Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants Signaling by CSF3 (G-CSF) Regulation of gene expression in early pancreatic precursor cells Developmental Lineage of Pancreatic Acinar Cells Developmental Lineage of Pancreatic Ductal Cells Developmental Lineage of Multipotent Pancreatic Progenitor Cells Platelet degranulation Neutrophil degranulation Gluconeogenesis ABC-family proteins mediated transport Ion homeostasis Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ChREBP activates metabolic gene expression SARS-CoV-1-host interactions Mitochondrial tRNA aminoacylation Insulin processing Synthesis, secretion, and deacylation of Ghrelin COPI-mediated anterograde transport PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling IRS activation Signal attenuation Insulin receptor signalling cascade Signaling by Insulin receptor Insulin receptor recycling NPAS4 regulates expression of target genes Amyloid fiber formation Synthesis of GDP-mannose Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells Digestion of dietary lipid RUNX1 regulates transcription of genes involved in BCR signaling Antigen activates B Cell Receptor (BCR) leading to generation of second messengers Manipulation of host energy metabolism Mitochondrial protein import Mitochondrial protein degradation TP53 Regulates Metabolic Genes

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Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 5 ensaios
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Alteração da glicólise

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Peripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.

iScience2026 Mar 20

Este estudo mostra que a hipersecreção do hormônio amilina, comum na pré-diabetes, desequilibra o metabolismo cerebral da glicose. Esse excesso de amilina suprime a produção de energia no cérebro (glicólise) e promove alterações nas proteínas Tau, que são marcadores patológicos da doença de Alzheimer (DA), resultando em neuroinflamação e déficits de memória. Para pacientes e médicos, isso significa que a amilina elevada na pré-diabetes pode ser um fator modificável crucial, sugerindo que o manejo adequado dessa condição metabólica pode ajudar a prevenir ou mitigar o risco de desenvolvimento da DA.

🇧🇷 traduzido
#2

Targeting the astrocytic metabolic cascade in Alzheimer's disease: mechanisms, challenges and opportunities.

Frontiers in aging neuroscience2026

A doença de Alzheimer (DA) vai além do acúmulo de amiloide e tau, sendo impulsionada por uma grave disfunção no metabolismo energético dos astrócitos (células de suporte do cérebro), que inclui processos essenciais como a glicólise. Essa falha metabólica central compromete o fornecimento de energia aos neurônios, acelerando a degeneração cerebral, a inflamação e o agravamento das outras patologias da DA. Compreender esse "colapso metabólico" nos astrócitos abre novas e promissoras oportunidades para médicos e pesquisadores desenvolverem terapias que visem restaurar a função metabólica e retardar a progressão da doença.

🇧🇷 traduzido
#3

Extracellular matrix stiffness drives cutaneous squamous cell carcinoma malignant progression via YAP-dependent glycolysis.

Cellular signalling2026 Mar 16

A rigidez do tecido ao redor do carcinoma espinocelular cutâneo (CECc) está ligada à progressão da doença e a um prognóstico pior. Essa rigidez ativa uma cascata de sinalização que, através da proteína YAP, intensifica a glicólise (o metabolismo do açúcar) nas células tumorais, impulsionando seu crescimento, migração e resistência ao tratamento. No entanto, inibir essa rigidez, a atividade de YAP ou a própria glicólise pode reduzir significativamente o tumor e seus comportamentos malignos, oferecendo novas abordagens terapêuticas para pacientes com CECc.

🇧🇷 traduzido
#4

Neuroprotective response against the onset of ischemic stroke by upregulation of histone H3Y99 sulfation.

Cell reports. Medicine2026 Mar 17

Este estudo revela que a sulfatação da histona H3Y99 é um mecanismo protetor cerebral contra o AVC isquêmico, pois estimula a glicólise e o metabolismo para sustentar a sobrevivência celular. Para pacientes e médicos, aumentar essa sulfatação (ex: por suplementação de sulfato) pode reduzir lesões cerebrais e melhorar a recuperação, conforme observado em modelos animais e em pacientes com AVC que apresentaram melhores desfechos com níveis séricos mais altos de sulfato. Isso sugere uma nova abordagem terapêutica para o AVC isquêmico.

🇧🇷 traduzido
#5

Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.

Cell death and differentiation2026 Mar 17

Este estudo revela que a enzima GAPDH no fígado é crucial para prevenir o acúmulo excessivo de gordura (esteatose hepática) durante o jejum e em dietas cetogênicas. A pesquisa sugere que a deficiência de GAPDH diminui os níveis de serina, um aminoácido que, quando suplementado, inibe a síntese de gordura e reverte a esteatose. Para pacientes e médicos, essa descoberta é relevante pois a suplementação de serina pode ser uma estratégia nutricional para prevenir ou auxiliar no tratamento da esteatose hepática associada a períodos de jejum ou a dietas específicas.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2 artigos no totalmostrando 199

2026

Improved serological testing for bovine schistosomiasis in Eastern Africa.

Parasites & vectors
2026

METTL3-mediated TIGAR m6A modification and its role in microglia activation related to Alzheimer's disease.

Neuroreport
2026

Lactylation modification - a bridge between sepsis and macrophage metabolic reprogramming.

Frontiers in immunology
2026

Fatty acid-related immune network in psoriasis: metabolic regulation of innate and adaptive immunity.

Frontiers in pharmacology
2026

The MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.

Cancer biology & therapy
2026

Distinct Mechanistic Pathways in Mouse MASLD Models: High-Sucrose/Starch Versus High-Fat, Methionine- and Choline-Deficient Diets.

The Journal of nutritional biochemistry
2026

Pretreatment volume-based 18F-FDG PET/CT parameters as prognostic indicators in malignant peritoneal mesothelioma patients.

Japanese journal of radiology
2026

Role of KLF4 in Neutrophil Aging in Periodontitis with Metabolic Syndrome.

Journal of dental research
2026

A review of the mechanisms linking Th2 immune storm to NETosis through neutrophil glycolytic activation.

International journal of biological macromolecules
2026

Peripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.

iScience
2026

Targeting the astrocytic metabolic cascade in Alzheimer's disease: mechanisms, challenges and opportunities.

Frontiers in aging neuroscience
2026

POU1F1 induces cancer stem cell-like traits in breast cancer cells by IL-6/JAK2/STAT3 activation and enrichment of ALDH.

NPJ breast cancer
2026

A PD-L1-targeted and lactate-responsive DNA hydrogel enabling Mito-US therapy: dual functions for postsurgical cancer detection and eradication.

Biomaterials
2026

Glycolytic alterations as biomarkers in polycystic kidney disease: A study using a PKD1 knockout model in NRK-52E rat kidney epithelial cells.

Physiological reports
2026

Aerobic glycolysis drives differentiation of unilocular adipocytes.

Journal of lipid research
2026

Ma Xing Shi Gan Decoction reduces influenza A virus nucleoprotein levels in association with modulation of lactate-HMGB1 lactylation and autophagosome accumulation.

Journal of ethnopharmacology
2026

Extracellular matrix stiffness drives cutaneous squamous cell carcinoma malignant progression via YAP-dependent glycolysis.

Cellular signalling
2026

D-lactate Drives Lysine D-lactylation to Regulate Metabolism in Escherichia coli.

The Journal of biological chemistry
2026

Neuroprotective response against the onset of ischemic stroke by upregulation of histone H3Y99 sulfation.

Cell reports. Medicine
2026

Surgical removal of visceral adipose tissue has therapeutic benefit in male APPNL-F mice.

Frontiers in endocrinology
2026

PIEZO1 regulates smooth muscle cell plasticity by integrating mechanical stretch with glycolytic metabolism.

Cardiovascular research
2026

Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.

Cell death and differentiation
2026

Androgen receptor localisation and protein interactions provide insight into steroid mediated metabolic shifts in endocrine resistant breast cancer.

NPJ breast cancer
2026

Oligodendrocyte-encoded lactate dehydrogenase A couples glycolysis to remyelination via protein lactylation.

Neuron
2026

Systems Biology of Metabolic Dysregulation in Ankylosing Spondylitis Using scRNA-Seq Data.

Omics : a journal of integrative biology
2026

Ferroptosis-driven metabolic reprogramming in macrophages: Reshaping glucose utilization landscapes.

Chinese medical journal
2026

Immunometabolic Dysregulation in Psoriasis: Mechanisms Driving Inflammation and Emerging Therapeutic Targets.

Immunological investigations
2026

Paraquat induces neuroinflammation through glycolytic reprogramming in microglia: evidence from network toxicology analysis and in vitro experiments.

Chemico-biological interactions
2026

The telomerase reverse transcriptase-derived peptide GN11 alleviates glycolysis and cellular senescence in the fibrotic kidney by inhibiting the TGF-β1/Smad3/lncRNA Oip5-os1/miR-30c-5p/Rock2 axis.

Biochemical pharmacology
2026

TDP-43 impairs glycolysis by sequestering hexokinase 1 in amyotrophic lateral sclerosis.

Acta neuropathologica
2026

Exploratory evaluation of CAP1 and ROCK2 as candidate blood biomarkers for vascular cognitive impairment.

Journal of Alzheimer's disease : JAD
2026

Mitochondrial dysfunction and immune microenvironment in gestational diabetes mellitus: insights from bioinformatics analysis and experimental validation.

Frontiers in immunology
2026

Lactate and cognition: a dual modulator.

Frontiers in molecular neuroscience
2026

INSIG1/2 succination mediated by the moonlighting function of ADSL promotes lipogenesis and liver tumorigenesis.

Nature communications
2026

Sympathetic overactivity-induced type H endothelial cell senescence contributes to the impairment of vascularized osteogenesis by PKM2-mediated glycolysis in preclinical stages of Alzheimer's mice.

Bone
2026

KNDC1 attenuates fibrosis in nonalcoholic fatty liver disease by inhibiting glycolysis in hepatic stellate cells.

Cellular signalling
2026

Pyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential.

Lancet (London, England)
2026

IL-33 is Required for Behavioral Deficits in a Murine Model of Systemic Lupus Erythematosus Through Regulation of Microglia Glycolysis.

CNS & neurological disorders drug targets
2026

Integrating 1H NMR-Based Fecal Metabolomics with Gut Microbiota-Metabolite Correlation Analysis and Network Pharmacology to Explore Anti-Hyperlipidemic Mechanisms of Red Clover in High-Fat Diet-Induced Mice.

Current medicinal chemistry
2026

Lactate-lactylation axis as an emerging metabolic-epigenetic pathway in diabetic microvascular complications.

Ageing research reviews
2026

Scap stabilizes PKM2 to promote glycolysis and enhance anti-fungal immunity in macrophages.

Cell reports
2026

Isoliquiritigenin restores bone homeostasis in osteoporotic rats by enhancing BMSCs osteogenesis via ERK1/2-mTOR-HIF-1α-glycolytic axis and suppressing inflammation.

International immunopharmacology
2026

Focus on Lactate and Lactylation Modification: The Potential Role in Ophthalmic Disease Treatment.

International journal of molecular sciences
2026

Regulation of PKM2 expression and function by GLIS3 during metabolic reprogramming in polycystic kidneys.

Experimental & molecular medicine
2026

Overconsumption of fructose aggravates acute GVHD by inducing gut dysbiosis and promoting macrophage-mediated inflammatory response.

Gut microbes
2026

PFKFB2-Induced Glycolysis and Ferroptosis in Diabetic Nephropathy by HIF-1α.

Critical reviews in eukaryotic gene expression
2026

Depleting HIF‑1α attenuates the progression of osteosarcoma, but tumorigenicity is sustained through HIF‑independent pathways.

Oncology reports
2026

Molecular mechanism underlying the specific RNA recognition of mitochondrial helicase DDX28 and its critical role in mitoribosomal biogenesis.

Structure (London, England : 1993)
2026

USP7 facilitates brain tumor survival upon glucose deprivation by regulating phosphofructokinase muscle-type nuclear translocation in mice.

PLoS biology
2026

NIPAL1 Drives a Metabolic-Epigenetic Feedback Loop to Promote Lactate-Mediated Immune Evasion in Esophageal Cancer.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.

Open forum infectious diseases
2026

The spatiotemporal dynamic evolution of post-stroke neuroinflammation: energy metabolism mechanisms of acute response and chronic progression.

Frontiers in pharmacology
2026

Microglia Dld-K127 lactylation promotes Parkinson's disease via regulating the metabolism of lactate-pyruvate transformation.

Journal of advanced research
2026

The Transcription Factor TFAP2A Induces M2 Macrophage Polarization by Upregulating EPS8L3 Expression, Thereby Accelerating the Malignant Progression of Pancreatic Ductal Adenocarcinoma.

Pancreas
2026

Glycosomal Phosphoenolpyruvate Carboxykinase CRISPR/Cas9-Deletion and Its Role in Trypanosoma cruzi Metacyclogenesis and Infectivity in Mammalian Host.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Pristimerin ameliorates spasmolytic polypeptide-expressing metaplasia by modulating Cdkn1c (p57)-mediated glycolytic reprogramming.

World journal of gastroenterology
2026

Case Report: Rethinking pulmonary arterial hypertension: immune and metabolic adaptations in a 34-year case of insidious progression.

Frontiers in cardiovascular medicine
2026

Untargeted Metabolomic and Lipidomic Profiling in Cystic Fibrosis Patients Using UPLC-QTOF-MS.

Journal of proteome research
2026

CSDE1 Drives Glycolysis and the Progression of Prostate Cancer Through RAC1-Dependent RAS/MAPK Activation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Bioenergetic Profiling of Lymphocytes in Patients With Visceral Leishmaniasis (VL) and Post Kala-Azar Dermal Leishmaniasis (PKDL).

Parasite immunology
2026

A Unique Intercellular Feedforward Loop From HK1 to TGF-β1 Promotes the Progression of Hepatocellular Carcinoma.

Journal of extracellular vesicles
2026

FNDC4 regulates TGF-β1-induced hepatic stellate cell activation and liver fibrosis via the AMPK/YAP pathway.

Free radical biology & medicine
2026

Immunometabolism of IRF4 in Adipose, Muscle, and Immune Cells Influences Obesity and MASLD.

American journal of physiology. Endocrinology and metabolism
2026

D-allose suppresses colitis associated carcinogenesis by reversing ER stress in macrophages and inhibiting cancer cell proliferation.

Frontiers in immunology
2026

In vivo imaging of metabolic heterogeneity across three endpoints relevant to aggressive breast cancer.

PNAS nexus
2026

A label-free microLC-SWATH-MS methodology with immunoaffinity depletion of highly abundant serum proteins for quantitative proteomic comparison of fresh-frozen human normal breast tissue and tumor clinical specimens.

Frontiers in molecular biosciences
2026

APOE4 drives widespread changes to the hepatic proteome and alters metabolic function.

iScience
2026

Astrocyte Bioenergetic Remodeling as a Central Trait of Disrupted Glucocorticoid Signaling: Mechanisms and Implications for Stress Vulnerability.

Journal of neurochemistry
2026

Pharmacological inhibition of glycolysis at the pyruvate-to-lactate conversion stage mitigates reperfusion injury without aggravating ischemic injury in mouse hearts.

European journal of pharmacology
2026

Piezo1 modulates PFKFB3 during placental neovascularization in preeclampsia via YAP to regulate glycolysis in endothelial progenitor cells.

Placenta
2026

miR-454-3p drives development of hepatic steatosis by negatively regulating JARID2.

Biochemical pharmacology
2026

Glutamine antagonist DON attenuates chikungunya virus-induced myositis by suppressing inflammatory activation in a murine model.

Emerging microbes & infections
2026

The role of lactate in retinal health and disease: mechanisms and potential therapeutic strategies. A narrative review.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2026

Sea cucumber peptides alleviate hyperuricemic nephropathy via HIF-1α/NF-κB/STAT3-SIRT1/p300 axis-mediated metabolic and epigenetic modulation.

Food & function
2026

Ginsenoside Re regulates PFKFB3-mediated glycolysis to inhibit endothelial cell migration to ameliorate atherosclerosis.

Journal of ginseng research
2026

A small‑molecule HDAC/PDE modulator activates human adipocyte UCP1 and resolves inflammatory signaling.

Journal of translational medicine
2026

PMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression.

Oncogene
2026

L-lactate-driven PSMD14 lactylation and stabilization promote lactate production and ferroptosis resistance via ENO1 in intrahepatic cholangiocarcinoma.

Cancer letters
2026

Effects of metabolic tumor volume and total glycolytic activity on prognosis in oral cavity cancers.

Acta oto-laryngologica
2026

Mitochondrial PDHA1 acetylation orchestrates lactate-dependent epigenetic reprogramming to promote fibrosis via NUAK2.

Cellular and molecular life sciences : CMLS
2026

PGK1 Lactylation-Driven Self-Reinforcing Loop Orchestrates Glycolytic Reprogramming in FSP1+ Macrophages in Liver Fibrosis.

Research (Washington, D.C.)
2026

Gomphus floccosus (Schw.) Sing. extract attenuates alcoholic liver disease by suppressing macrophage glycolysis and M1 polarization.

Frontiers in immunology
2026

Molecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.

Cureus
2026

Tofacitinib repairs inflammation and mitochondrial dysregulation in GM-CSF-reprogrammed RA macrophages.

Cellular & molecular immunology
2026

An acetylation-dependent switch underlies host disease tolerance during streptococcal infection.

Scientific reports
2026

TGM2-mediated serotonylation in tumor endothelial cells promotes angiogenesis and tumor growth in colorectal cancer.

Cancer letters
2026

Decoding the metabolic-immune axis for novel therapeutics in bladder cancer.

Biochimica et biophysica acta. Reviews on cancer
2026

Dihydroartemisinin facilitates intestinal mucosal healing in inflammatory bowel disease by targeting 11βHSD-1 to reprogram macrophage metabolism.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Telitacicept alleviates IgA nephropathy by targeting PDHA1 lactylation to inhibit B cell metabolic reprogramming and lactate-mediated renal injury.

European journal of medical research
2026

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

Nature communications
2026

Whole-body PET/CT reveals systemic dissemination in spinal tuberculosis: findings from the Spinal TB X cohort.

Infection
2026

ALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.

IUBMB life
2026

KDM6B/Pdk1 glycolytic pathway-driven ZEB2 lactylation promotes cellular cementum formation.

International journal of oral science
2026

CDK8/CDK19 inhibition restores T-cell homeostasis in primary immune thrombocytopenia.

Blood
2026

Combined Expression of hRdCVF and hRdCVFL Through AAV-Mediated Delivery for the Treatment of Retinitis Pigmentosa.

Investigative ophthalmology & visual science
2026

Effect of PKM2 on M. tuberculosis Rv1987-induced macrophage M2 polarization.

Frontiers in cellular and infection microbiology
2026

Metformin as an immunometabolic modulator in breast cancer: integrating NK and NKT cell responses.

3 Biotech
2026

Analyses of astrocyte-neuron lactate shuttle transporter levels in brain tissues from people with HIV-associated neurocognitive impairment and Alzheimer's disease.

NeuroImmune pharmacology and therapeutics
2026

α-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.

The Journal of clinical investigation
2026

RUNDC3A-AS1 is an adverse prognostic factor for triple-negative breast cancer which mediates the Warburg effect and Adriamycin resistance by targeting miR-224-3p/COL5A2.

Toxicology and applied pharmacology
2026

Discovery of Genes Related to Cuproptosis and Mitophagy to Improve Myocardial Infarction Diagnosis and Treatment.

Current gene therapy
2026

Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.

Cell death discovery
2026

Pyruvate is a natural suppressor of interferon signaling by inducing STAT1 protein pyruvylation.

Cell
2026

Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.

Frontiers in bioscience (Landmark edition)
2026

α-synuclein preformed fibrils suppress cell cycle progression and glycolytic flux in glioblastoma cells.

Experimental cell research
2026

Transcriptomic analysis of cells following decreased mitochondrial DNA-copy number reveals compensatory mechanisms in mitochondrial DNA replication and cellular energetics.

Experimental cell research
2026

Stage-Dependent Function of Astrocytes in Alzheimer's Disease: A Review.

Neuroscience insights
2026

Myeloid DRP1 Sulfenylation Drives Reparative Macrophage Polarization and Neovascularization in Ischemic Muscle.

bioRxiv : the preprint server for biology
2026

Long-Read Isoform Sequencing Reveals Aroclor1260-Induced Isoform Usage in Mouse Livers.

Genes
2026

Body-Wide Glycolytic Shift, Oxidative Stress, and Sex-Specific Effect of Caloric Restriction in a Mouse Model of Alzheimer's Disease.

Antioxidants (Basel, Switzerland)
2026

Black Sesame Pigment Ameliorates Non-Alcoholic Fatty Liver Disease via Modulation of the Gut-Liver Axis and HIF-1 Signaling Pathway.

Antioxidants (Basel, Switzerland)
2026

α-Ketoglutarate restores redox and energy homeostasis to ameliorate splenic immune dysfunction induced by carbonate-alkaline stress in crucian carp (Carassius auratus).

Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology
2026

Spatio-temporal analysis deciphers the energy metabolism disorders in depression based on stable isotope-resolved metabolomics.

Journal of pharmaceutical and biomedical analysis
2026

TIGAR deficiency enhances cardiac resilience through epigenetic programming of Parkin expression.

JCI insight
2026

Chromium(VI) Modulates Macrophage Polarization and Metabolic Reprogramming to Impair Immune Function.

Toxics
2026

Host Serum Biomarker Signatures in Mycobacteriologically Cured Pulmonary Tuberculosis Patients with Persistent Lung Inflammation on 18F-FDG PET/CT.

Diseases (Basel, Switzerland)
2026

TCA cycle intermediates as an adjunct strategy for human iPSC-derived cardiomyocyte maturation.

BBA advances
2026

CD4+T cell metabolic reprogramming as therapeutic targets in neurodegenerative diseases.

Molecular brain
2026

M2 macrophages promote lymphatic metastasis by regulating PKM2 nuclear translocation in triple-negative breast cancer.

Cell death & disease
2026

AMPK Deficiency Induces Corneal Epithelial Barrier Dysfunction by Modulating Energy Homeostasis.

Investigative ophthalmology & visual science
2026

METTL3 Potentiates Corneal Allograft Rejection via Increased Pro-Inflammatory Cytokine Production and Aerobic Glycolysis.

Investigative ophthalmology & visual science
2026

FOXO1 Integrates Endothelial Hemodynamic, Inflammatory, and Metabolic Pathways in Atherosclerosis.

Circulation research
2026

Energetic metabolism-regulatory glycopeptide hydrogel accelerates pressure ulcer wound repair.

Bioactive materials
2026

Multi-omics and causal inference reveal lactylation-based osteoblast regulatory networks and drug candidates.

iScience
2026

Multi-omics-based study on the biological characteristics of kidney renal deficiency and blood stasis in ankylosing spondylitis.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2026

Enolase 1 suppresses influenza A virus replication by blocking the nuclear import of the viral ribonucleoprotein complex.

Cellular and molecular life sciences : CMLS
2026

Lemon balm-derived nanovesicles restore mitochondrial function and reduce cytokine production in skin fibroblasts under pro-inflammatory conditions.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences
2026

Lack of PCK1 in hepatic stellate cells causes liver fibrosis by fueling tricarboxylic acid cycle and increasing glycolysis.

Cell metabolism
2026

Single-cell transcriptomics reveals phenotypic and functional alterations of erythroid progenitor cells in tuberculosis patients.

Tuberculosis (Edinburgh, Scotland)
2026

Lipophagy in chronic obstructive pulmonary disease: Mechanistic insights and emerging therapeutic targets.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Cyanidin-3-O-glucoside promotes late-stage venous thrombus resolution in mice, accompanied by reduced macrophage M1-associated inflammation and attenuated HIF-1α-linked signaling.

Food & function
2026

mtDNA leakage promotes neuron-glia crosstalk to induce epilepsy by cGAS-STING-driven neuroinflammation and serine metabolic reprogramming.

Proceedings of the National Academy of Sciences of the United States of America
2026

Repair of Corneal Epithelial Defects.

Progress in molecular and subcellular biology
2026

PCMTD1-127aa suppresses osteosarcoma progression by competitively binding to USP10 to promote c-MYC degradation.

iScience
2026

Lactate-induced miR-7-5p/TRIM33 reprograms metabolic flux to suppress tumor growth and viral reactivation.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

PFKP binding AMOTL1 promotes tumor aerobic glycolysis and epithelial-mesenchymal transition by modulating Hippo pathway in head and neck cancer.

Journal of translational internal medicine
2026

ANGPTL8 accelerates bone loss in diabetic mice by promoting osteoclastic differentiation and inhibiting osteoblastic differentiation through AMPK pathway-mediated metabolic reprogramming.

Cellular and molecular life sciences : CMLS
2026

Immunotherapy in triple-negative breast cancer: From molecular mechanisms to precision medicine-overcoming resistance and optimizing clinical outcomes.

Critical reviews in oncology/hematology
2026

Cinnamaldehyde inhibits the progression of gastric cancer by regulating glycolysis through PTP1B/PI3K/AKT/mTOR signaling pathway.

Toxicology and applied pharmacology
2026

Red blood cells serve as a primary glucose sink to improve glucose tolerance at altitude.

Cell metabolism
2026

Distinct gut microbiota signatures in white leghorn and silky fowl are associated with divergent laying performance.

Poultry science
2026

Simvastatin Targets PKM2 to Alter Metabolic Reprogramming in Hepatic Stellate Cells and Mitigate Liver Fibrosis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Anoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.

Frontiers in endocrinology
2026

Dietary chromium picolinate-promoted oxidative phosphorylation may be a potential mean to improve hypoxia tolerance of juvenile grass carp (Ctenopharyngodon idella).

Animal nutrition (Zhongguo xu mu shou yi xue hui)
2026

Roles of immune cell metabolism in rheumatoid arthritis.

Frontiers in immunology
2026

Restoring NAD⁺-Sirtuins Signaling: A Novel Approach to Combat Male Reproductive Aging.

The world journal of men's health
2026

Structural characterization of glycolytic enzymes from Trypanosoma cruzi.

Molecular and biochemical parasitology
2026

The glycolytic enzyme PFKM promotes renal fibrosis by activating the NF-κB pathway via lactate-mediated H3K18 lactylation.

Cellular and molecular life sciences : CMLS
2026

Circadian-rhythm-based dynamics of the secretome in molecular subtypes of pancreatic ductal adenocarcinoma.

Expert review of proteomics
2026

Adenosine-Specific Transcriptional Programs in Murine Connective Tissue-Type Mast Cells.

ACS pharmacology & translational science
2026

Metabolic interactions in the brain: the crucial roles of neurons, astrocytes, and microglia in health and disease.

Frontiers in neuroscience
2026

Triptolide from Tripterygium wilfordii Suppresses Glycolysis and Induces Cuproptosis via the HK2/DLAT Signaling Pathway in Colorectal Cancer.

The American journal of Chinese medicine
2026

Glycolysis and NLRP3 inflammasome activation in diseases.

European journal of medical research
2026

Targeting the SIN1 mediated TTK/LDHA-H3K18la-GLUT3 axis disrupts metabolic-epigenetic crosstalk and suppresses progression in hyperglycolytic breast cancer.

Cancer letters
2026

Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.

Science advances
2026

Mitochondrial Metabolism in Neutrophils: Emerging Roles in Inflammatory Skin Diseases.

The British journal of dermatology
2026

Distinct prognostic value of [18F]FDG PET and [68Ga]Ga-PSMA-11 PET in advanced hormone-sensitive prostate cancer.

Communications medicine
2026

β-Catenin-Facilitated Glycolytic Reprogramming Fuels TNBC Progression: Therapeutic Blockade with XAV939.

Technology in cancer research & treatment
2026

Ep300-mediated acetylation plasticity in the acetyl-CoA metabolic network drives the protective role of intensive lifestyle intervention in visceral white adipose tissue.

Cell communication and signaling : CCS
2026

Hypoxia-induced circ_0017521 enhances glycolysis and promotes NSCLC progression via upregulating the PFKFB3/PI3K-AKT pathway.

Mammalian genome : official journal of the International Mammalian Genome Society
2026

PKM2 Promotes Glycolysis in Alveolar Macrophages and Induces Inflammation in Bronchopulmonary Dysplasia.

Inflammation
2025

Spatial profiling of the metabolism-immune axis in ovarian cancer.

Frontiers in pharmacology
2026

Histone H4K8 lactylation promotes glioblastoma progression by inducing NUPR1-mediated autophagosome‒lysosome fusion.

Theranostics
2026

Delactylase effects of SIRT3 on a positive feedback loop involving the RUNX1-glycolysis-histone lactylation in diabetic kidney disease.

International journal of biological sciences
2026

Neoepitopes at the crossroads of immunometabolism: metabolic remodeling of antigen presentation in type 1 diabetes.

Frontiers in immunology
2026

Enhanced CHI3L1 promotes macrophage activation in persistent inflammatory events of ulcerative interstitial cystitis.

Frontiers in immunology
2025

Integrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis.

Frontiers in immunology
2026

Dysregulated Lipid and Protein Networks in Osteochondrosis.

Journal of proteome research
2026

Metabolism in Tumour-Induced Bone Disease.

Current osteoporosis reports
2026

Paeonol inhibits the progression of endometrial cancer by affecting TRIM26-mediated LDHA ubiquitination modification.

Tissue & cell
2026

ENO2 and BPTF axis drives tumor progression and macrophage polarization in T2DM-associated colorectal cancer.

Pathology, research and practice
2026

Lactate targeting: Regulatory networks and therapeutic potential in bone diseases.

International immunopharmacology
2026

Plasma metabolomics reveals distinct metabolic alterations and biomarkers of disease activity in HLA-B27-positive acute anterior uveitis.

Eye (London, England)
2026

A peptide drug targeting SASH1-PKM2 interaction promotes recovery of traumatic brain injury in mice.

Brain research
2026

Topical ionic liquid-mediated GLUT1 gene editing ameliorates psoriasis and prevents recurrence.

Biomaterials
2026

FASN-mediated metabolic reprogramming drives CD4+ T cell hyperactivation in Sjögren's syndrome via fatty acid oxidation-dependent oxidative phosphorylation.

Arthritis research & therapy
2026

Immunometabolism Reframes Alzheimer's Disease: From Systemic Dysmetabolism to Glial Rewiring.

Cellular and molecular neurobiology
2026

Spatiotemporal transcriptomic profiling reveals upregulation of glycolysis pathway genes before overt tauopathy in the PS19 mouse model.

Experimental & molecular medicine
2026

USP30-mediated Deubiquitination of Hexokinase 2 controls the metabolic fate of glucose and tumor progression.

Cell death & disease
2026

Saquinavir induces pyroptosis through the OTUD5-JAK1-GSDME axis in hepatocellular carcinoma.

Free radical biology & medicine
2026

ADARB1 inhibits glycolysis and progression of cervical cancer through the HMGB1/PFKFB3 axis.

Biochimica et biophysica acta. Molecular basis of disease
2026

STARD10 regulates human pancreatic β cell differentiation and triglyceride metabolism.

Stem cell reports
2026

Integrative metabolomics and lipidomics reveal Jian-Pi-Yi-Shen formula improves adenine-induced CKD rats by regulating intrarenal glycolipid metabolism.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2026

Yiqi Daozhi Formula Reduces the M1 Polarization of Macrophages in Mice With Postoperative Ileus Through Mediating Glycolysis Metabolism.

Immunity, inflammation and disease
2026

Multi-Organ Transcriptomic Analysis of Greater Amberjack (Seriola dumerili) with Different Growth Rates.

Animals : an open access journal from MDPI
2026

Histone lactylation leads to perioperative neurocognitive disorders by promoting the expression of Ralbp1 and inducing excessive mitochondrial fission in hippocampal neurons.

Cellular and molecular life sciences : CMLS
2026

CUL4A promotes glycolytic metabolism of fibroblast-like synoviocytes by targeting FGF2 in rheumatoid arthritis.

Biochemical pharmacology
2026

Comprehensive Proteomics and β-Hydroxybutyrylation Profiling in Starvation-Induced Gastrocnemius Muscle Remodeling.

Biology
2026

Tissues Guide Dependence of Treg on the Transferrin Receptor.

bioRxiv : the preprint server for biology
2026

Frogs uncouple neural activity from oxygen consumption after hibernation.

bioRxiv : the preprint server for biology
2026

Role of lactylation modification in regulating lytic cell death.

Frontiers in oncology
2026

The metabolic consequences of evoked spreading depolarization in brain slices.

Scientific reports
2026

Predictive and prognostic value of a glucose metabolism disorder and immune-related gene signature in glioma.

Neuroscience
2026

M6A demethylase FTO in leukemia: Function, molecular mechanisms, and therapeutic implications.

Pathology, research and practice
2026

Regulatory mechanisms and targeted therapeutic strategies of glycolytic metabolism in rheumatoid arthritis.

Autoimmunity reviews
2026

Semaglutide ameliorates osteoarthritis progression through a weight loss-independent metabolic restoration mechanism.

Cell metabolism
2026

Src-mediated PHB2 phosphorylation disrupts mitochondrial cristae through cardiolipin dissociation in hepatocellular carcinoma.

Redox biology
2026

Metabolic surgery mitigates early kidney injury in obese youth with diabetes by suppressing mTORC1/JAK-STAT signaling.

The Journal of clinical investigation
2026

Dysregulation of Farnesoid X Receptor on Neutrophil Homeostasis Exacerbates Intestinal Inflammation via the mTORC1-Glycolysis Signaling Pathway.

MedComm

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Peripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.
    iScience· 2026· PMID 41858884mais citado
  2. Targeting the astrocytic metabolic cascade in Alzheimer's disease: mechanisms, challenges and opportunities.
    Frontiers in aging neuroscience· 2026· PMID 41858787mais citado
  3. Extracellular matrix stiffness drives cutaneous squamous cell carcinoma malignant progression via YAP-dependent glycolysis.
    Cellular signalling· 2026· PMID 41850468mais citado
  4. Neuroprotective response against the onset of ischemic stroke by upregulation of histone H3Y99 sulfation.
    Cell reports. Medicine· 2026· PMID 41850229mais citado
  5. Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
    Cell death and differentiation· 2026· PMID 41844899mais citado
  6. Effect of electroacupuncture on postoperative delirium in elderly patients undergoing laparoscopic radical prostatectomy: study protocol for a double-center randomized controlled trial.
    Front Med (Lausanne)· 2026· PMID 41994465recente
  7. Advances in dry eye disease: from immunopathological mechanisms to emerging ophthalmic drug delivery systems.
    Front Med (Lausanne)· 2026· PMID 41994442recente
  8. Acute Suppurative Thyroiditis Caused by Escherichia coli in an Immunocompetent Adult: A Case Report.
    Clin Case Rep· 2026· PMID 41994149recente
  9. Gut microbiome modulation in allergic rhinitis: from current evidence to emerging therapies.
    Front Allergy· 2026· PMID 41993996recente
  10. Antiphospholipid Syndrome and Cardiovascular Disease.
    Cardiol Rev· 2026· PMID 41992296recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:308459(Orphanet)
  2. MONDO:0017688(MONDO)
  3. GARD:21306(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55787283(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Alteração da glicólise
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Alteração da glicólise

ORPHA:308459 · MONDO:0017688
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